RASopathies

Gene: PTPN11

Green List (high evidence)

PTPN11 (protein tyrosine phosphatase, non-receptor type 11)
EnsemblGeneIds (GRCh38): ENSG00000179295
EnsemblGeneIds (GRCh37): ENSG00000179295
OMIM: 176876, Gene2Phenotype
PTPN11 is in 30 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of pathogenicity: See comments from reviewer - both loss-of-function and gain-of-function variants may be relevant.
Created: 5 Feb 2016, 12:39 p.m.
Comment when marking as ready: Comments from Reviewer: Loss of function mutations in PTPN11 are identified in 90% of cases of LEOPARD syndrome. Gain of function mutations in PTPN11 are the cause of 50% of Noonan syndrome cases. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 11:25 a.m. Gain of function mutations in PTPN11 cause Noonan syndrome and LEOPARD syndrome. These disorders share phenotypes with Legius syndrome. No reports of mutations in PTPN11 causing Legius syndrome. - Helen Savage (Congenica Ltd), Jan. 25, 2016, 11:45 a.m. Gain of function mutations in, and rare duplications of, PTPN11 cause ~50% of Noonan syndrome cases. Loss of function mutations cause ~90% of LEOPARD syndrome cases. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 2:21 p.m.
Created: 5 Feb 2016, 12:35 p.m.

Helen Savage (Congenica Ltd)

Green List (high evidence)

Gain of function mutations cause Noonan syndrome; loss of function mutations cause LEOPARD syndrome
Created: 1 Feb 2016, 10:50 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Noonan syndrome; LEOPARD syndrome

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

History Filter Activity

19 Jun 2019, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: PTPN11 were set to PMID: 17603483; 11704759; 12529711; 12634870; 15384080; 15240615; 16263833; 17497712; 18678287

13 Jun 2019, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: PTPN11 were changed from LEOPARD syndrome; LEOPARD syndrome 1; Noonan syndrome; Noonan syndrome 1 to LEOPARD syndrome 1 151100; Noonan syndrome 1 163950

5 Feb 2016, Gel status: 4

Set mode of pathogenicity

Ellen McDonagh (Genomics England Curator)

Mode of pathogenicity for PTPN11 was changed to Other - please provide details in the comments

5 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PTPN11 were set to LEOPARD syndrome; LEOPARD syndrome 1; Noonan syndrome; Noonan syndrome 1

5 Feb 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PTPN11 were set to LEOPARD syndrome 1; LEOPARD syndrome; Noonan syndrome

4 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PTPN11 were set to PMID: 17603483; 11704759; 12529711; 12634870; 15384080; 15240615; 16263833; 17497712; 18678287

4 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

4 Feb 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PTPN11 were set to PMID: 17603483

4 Feb 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for PTPN11 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

2 Feb 2016, Gel status: 4

Upload gene information

Ellen McDonagh (Genomics England Curator)

PTPN11 was added to RASopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,UKGTN

2 Feb 2016, Gel status: 6

clearsources

Ellen McDonagh (Genomics England Curator)

PTPN11All sources for gene: PTPN11 were removed

18 Nov 2015, Gel status: 6

Added New Source

Ellen McDonagh (Genomics England Curator)

PTPN11 was added to RASopathiespanel. Source: Emory Genetics Laboratory

18 Nov 2015, Gel status: 6

Added New Source

Ellen McDonagh (Genomics England Curator)

PTPN11 was added to RASopathiespanel. Source: Illumina TruGenome Clinical Sequencing Services PTPN11 was added to RASopathiespanel. Source: Emory Genetics Laboratory

18 Nov 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PTPN11 was added to RASopathiespanel. Source: Illumina TruGenome Clinical Sequencing Services

18 Nov 2015, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

PTPN11 was added to RASopathiespanel. Sources: Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing

18 Nov 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PTPN11 was created by ellenmcdonagh